Hereditary renal disease with neurosensory hearing loss, prolinuria and ichthyosis.
D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors; D002648:Child; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D005260:Female; D005796:Genes; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007669:Kidney Calculi / Q000235:genetics; D008297:Male; D009393:Nephritis / Q000235:genetics*; D007690:Polycystic Kidney Diseases / Q000235:genetics; D011392:Proline / Q000652:urine*
D011392:Proline